Variant report

Variant	rs4720437
Chromosome Location	chr7:4918901-4918902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4915943..4917939-chr7:4918278..4920161,2	MCF-7	breast:
2	chr7:4918185..4921025-chr7:4922421..4926916,4	K562	blood:

Variant related genes	Relation type
ENSG00000157927	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10240422	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11974975	0.84[EUR][1000 genomes]
rs2880934	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4720434	0.82[EUR][1000 genomes]
rs4720435	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4720436	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4724132	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4724137	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4724138	0.86[EUR][1000 genomes]
rs4724144	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62450245	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv823994	chr7:4792385-4928328	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv8033	chr7:4802287-5086597	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv528748	chr7:4820581-5010993	Enhancers Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1029123	chr7:4821734-4919277	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1021170	chr7:4831361-5058033	Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv538706	chr7:4831361-5058033	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1025467	chr7:4850447-5021443	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv605979	chr7:4854592-4944514	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1021999	chr7:4862082-5003190	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv538707	chr7:4862082-5003190	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1033855	chr7:4862677-5069764	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv605980	chr7:4876057-5003373	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
22	nsv971151	chr7:4915196-4928162	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4720437	RADIL	cis	Muscle Skeletal	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4905200-4921800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:4906800-4919200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:4906800-4921600	Weak transcription	Gastric	stomach
4	chr7:4911400-4919200	Weak transcription	Esophagus	oesophagus
5	chr7:4911600-4921600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:4911800-4921600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:4912000-4919200	Weak transcription	Fetal Intestine Small	intestine
8	chr7:4912000-4921400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:4912200-4921600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:4912200-4921800	Weak transcription	K562	blood
11	chr7:4912600-4921400	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:4913400-4921600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:4914000-4920000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:4914000-4921600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:4914200-4919600	Weak transcription	Left Ventricle	heart
16	chr7:4914400-4919600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:4914600-4919000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:4914800-4919000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:4915000-4921600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:4915400-4921600	Weak transcription	Aorta	Aorta
21	chr7:4915400-4921800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:4916400-4919000	Enhancers	Fetal Heart	heart
23	chr7:4916800-4921600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:4917200-4921800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:4917400-4920000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:4917600-4919200	Weak transcription	Brain Germinal Matrix	brain
27	chr7:4917600-4920000	Weak transcription	Fetal Brain Female	brain
28	chr7:4917600-4921600	Weak transcription	Ovary	ovary
29	chr7:4917800-4921400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:4918000-4919000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:4918000-4921400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:4918200-4919000	Enhancers	Fetal Muscle Leg	muscle
33	chr7:4918200-4919400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:4918200-4919400	Enhancers	Fetal Lung	lung
35	chr7:4918200-4919600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:4918200-4921400	Weak transcription	Fetal Brain Male	brain
37	chr7:4918400-4919000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
38	chr7:4918400-4919000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:4918400-4919000	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr7:4918400-4919000	Enhancers	HSMMtube	muscle
41	chr7:4918400-4919200	Enhancers	Stomach Smooth Muscle	stomach
42	chr7:4918400-4919600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:4918400-4920600	Enhancers	Lung	lung
44	chr7:4918400-4921600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:4918600-4919000	Enhancers	Adipose Nuclei	Adipose
46	chr7:4918600-4919000	Flanking Active TSS	Right Ventricle	heart
47	chr7:4918600-4919000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr7:4918600-4919200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:4918600-4919200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:4918600-4920400	Bivalent Enhancer	Fetal Stomach	stomach

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